SCA2区域的高分辨率PAC和BAC图谱。

A high-resolution PAC and BAC map of the SCA2 region.

作者信息

Nechiporuk T, Nechiporuk A, Sahba S, Figueroa K, Shibata H, Chen X N, Korenberg J R, de Jong P, Pulst S M

机构信息

Rose Moss Laboratory for Parkinson's and Neurodegenerative Diseases, CSMC Burns and Allen Research Institute, University of California, Los Angeles School of Medicine 90048, USA.

出版信息

Genomics. 1997 Sep 15;44(3):321-9. doi: 10.1006/geno.1997.4886.

DOI:10.1006/geno.1997.4886

PMID:9325053

Abstract

The spinocerebellar ataxia type 2 (SCA2) gene has been localized to chromosome 12q24.1. To characterize this region and to aid in the identification of the SCA2 gene, we have constructed a 3.9-Mb physical map, which covers markers D12S1328 and D12S1329 known to flank the gene. The map comprises a contig of 84 overlapping yeast artificial chromosomes (YACs), P1 artificial chromosomes (PACs), and bacterial artificial chromosomes (BACs) onto which we placed 82 PCR markers. We localized eight genes and expressed sequence tags on this map, many of which had not been precisely mapped before. In contrast to YACs, which showed a high degree of chimerism and deletions in this region, PACs and BACs were stable. Only 1 in 65 PACs contained a small deletion, and 2 in 18 BACs were chimeric. The high-resolution physical map, which was used in the identification of the SCA2 gene, will be useful for the positional cloning of other disease genes mapped to this region.

摘要

脊髓小脑共济失调2型（SCA2）基因已被定位于12号染色体的12q24.1区域。为了对该区域进行特征描述并辅助SCA2基因的鉴定，我们构建了一个3.9兆碱基对的物理图谱，该图谱覆盖了已知位于该基因两侧的标记D12S1328和D12S1329。该图谱由84个重叠的酵母人工染色体（YAC）、P1人工染色体（PAC）和细菌人工染色体（BAC）组成的重叠群构成，我们在其上放置了82个聚合酶链反应（PCR）标记。我们在该图谱上定位了8个基因和表达序列标签，其中许多此前尚未被精确映射。与在该区域显示出高度嵌合和缺失的YAC不同，PAC和BAC是稳定的。65个PAC中只有1个包含小的缺失，18个BAC中有2个是嵌合的。用于鉴定SCA2基因的高分辨率物理图谱将有助于对定位于该区域的其他疾病基因进行定位克隆。